Varaico: Literature-Extracted Genetic Variants

CNNM4

152 papers

RefSeq Summary

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encod...

Pfam Domains

Ig_CNNM4_Naa 45–176UCSCMetal transporter CNNM4-like, immunoglobulin-like domain

CNNMaa 187–358UCSCCyclin M transmembrane N-terminal domain

CBSaa 441–505UCSCCBS domain

CNBH_CNNM2_Caa 518–726UCSCMetal transporter CNNM2-like, C-terminal CNBH domain

Gene Aliases

HGNC Name

cyclin and CBS domain divalent metal cation transport mediator 4

HGNC Previous Symbol

ACDP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020184.4

p.M377K

c.1130T>A

Surrounding Variants

1 paper

NM_020184.4

p.T372P

c.1114A>C

1 paper

NM_020184.4

p.M385L

c.1153A>C

1 paper

NM_020184.4

p.M385L

c.1153A>T

1 paper

NM_020184.4

p.G364fs

c.1090_1091fs

3 papers

NM_020184.4

p.G364delFs

c.1091delG

3 papers

NM_020184.4

p.L359P

c.1076T>C

1 paper

NM_020184.4

p.E357E

c.1071G>A

1 paper

NM_020184.4

p.E357K

c.1069G>A

1 paper

NM_020184.4

p.D353D

c.1059C>T

3 papers

NM_020184.4

p.R407L

c.1220G>T

1 paper

NM_020184.4

p.L345_K346insFs

c.1035_1036ins11

5 papers

NM_020184.4

p.P409L

c.1226C>T